The experiences and implications of living with a BRCA1/2 alteration: Establishing the evidence base
Warner, Nikolett Zsuzsanna
Warner, Nikolett Zsuzsanna
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Publication Date
2023-03-23
Type
Thesis
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Abstract
Background BRCA1/2 alterations refer to a pathogenic variant in BRCA1 and BRCA2 genes. Having a BRCA1/2 alteration leads to a significant increase in lifetime risk of developing certain cancers, namely melanomas, breast and pancreatic cancers in both sexes, ovarian in females and prostate in males. The lifetime risk of breast cancer is 87%, and 68% for ovarian cancer in affected females. To reduce this risk in females, intensive screening schedules, prophylactic surgeries or pharmacological approaches are undertaken. Psycho-social issues such as heightened distress or anxiety can occur because of this increased risk, and the need to make decisions about risk reduction strategy. Aim This research aims to explore the subjective experiences of this cohort to better understand their needs, and how these impact engagement in certain lifestyle behaviours that are known to reduce breast cancer risk in women. Method A combination of quantitative and qualitative methods were used. In Study 1, a systematic review was conducted to build an evidence base to better understand the processes of psychological adaptation in this cohort. Study 2 involved qualitative interviews to identify and understand the subjective experiences of those with BRCA1/2 alterations and their coping trajectory, alongside their experiences within the Irish healthcare system. Finally, a quantitative survey was used in Study 3 to assess what predicts health behaviour in individuals with BRCA1/2 alterations. Previous research has largely used survey methods to analyse these, but there has been no investigation into the interdependencies between these predictors and engagement in health behaviour. As such, path analysis on AMOS was utilised to explore this further. Findings Study 1 was the first to synthesise interventions which aimed to address psychological adjustment (outcomes of distress, anxiety, stress, and coping). A dearth of high-quality interventions with limited use of theory in intervention development was noted, signifying the need for further research in the field. Study 2 is reported in two articles. The first highlighted a perceived inadequacy in the healthcare system. The second article reported on the coping experiences of this population, discussing two core themes. The first theme referred to “Adjusting to a New Perspective” and had two subthemes. The first subtheme denoted the “Emotional Aspects” of BRCA1/2 alteration carrier status. The second subtheme highlighted experiences of “Relationships Changing”, due to the identification of a BRCA1/2 alteration. The second theme was called “Making Sense of BRCA”, and was composed of two subthemes. The first subtheme reported on how BRCA1/2 alteration carriers leaned on “Meaning Making”, to cope, alongside the second subtheme, “Hope”, as another coping technique. The second article from Study 2 discussed the medical experiences of individuals with BRCA1/2 alterations. Another two themes were reported upon. The first theme highlighted “Healthcare Services as a Burden to Navigate” and consisted of two subthemes. The first subtheme highlighted “Healthcare Services as Largely Inaccessible” and the second “Healthcare Services as Inappropriate”. The second theme discussed the “Burden Experienced Through Interactions with Healthcare Professionals”. This theme had two subthemes, the first noted “Negative Interactions with Health Care Providers”, and the second subtheme collated experiences on “Disempowerment Around Decision Making”. Finally, Study 3 found that health related cancer preventative behaviours are inversely related to perceived risk of developing breast cancer, health literacy, and cancer information overload. Additionally, distress related to genetic testing was inversely related to positive experiences related to genetic testing, and positively related to perceived control over developing breast cancer and uncertainty related to genetic testing. Finally, perceived risk of developing breast cancer was inversely related to perceived control of developing breast cancer and uncertainty related to genetic testing. Conclusion The findings of this research provide important new insights into coping and engagement in health protective behaviours for BRCA1/2 alteration carriers. Moreover, this research has demonstrated the need for more research in the field and provides a pillar for future intervention development for this population, required to decrease the psychological and modifiable health behavioural implications of a BRCA1/2 alteration identification.
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NUI Galway